{"Name":"Distal trisomy 22q","DiseaseID__c":"GARD:0019322","id":19322,"encodedName":"distal-trisomy-22q","IsDeleted":false,"Disease_Name_Full__c":"Distal trisomy 22q","Xref_IDs__c":"764512003; C4706936; MEDGEN:1642344; MONDO:0019889; ORPHA:96109","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":2,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019889","Disease_Description__c":"Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.","GARD_Name__c":"Distal trisomy 22q","GARD_Synonym__c":"distal duplication 22q; distal trisomy 22q syndrome; distal trisomy type 22q; telomeric duplication 22q; trisomy 22qter","Curated_Disease_Description_Source__c":"MONDO:0019889","Curated_Disease_Description__c":"Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:96109","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019889","ORPHANET_ID__c":"ORPHA:96109","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de duplicación terminal 22q","Spanish_Description_Source__c":"ORPHA:96109","Spanish_Description__c":"La trisomía terminal 22q es una anomalía cromosómica poco frecuente, que resulta de la duplicación parcial del brazo largo del cromosoma 22, con un fenotipo variable caracterizado principalmente por diversos grados de discapacidad intelectual y retraso del desarrollo, falta de crecimiento pre- y postnatal, hipotonía y dismorfia craneofacial (incluyendo microcefalia, hipertelorismo, fisuras palpebrales estrechas e inclinadas hacia arriba, pliegues epicánticos, orejas displásicas de baja implantación, puente nasal ancho y deprimido, labio leporino y/o paladar hendido, surco nasolabial largo, retro/micrognatia). También se han notificado defectos cardíacos congénitos, así como anomalías cerebrales, esqueléticas, renales y genitales.","Spanish_Disease_Name__c":"síndrome de duplicación terminal 22q","Spanish_GARD_Synonym__c":"trisomía 22qter; trisomía terminal 22q","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Distal trisomy 22q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with variable phenotype principally characterized by varying degrees of intellectual disabilty and developmental delay, pre- and postnatal growth deficiency, hypotonia, and craniofacial dysmorphism (incl. microcephaly, hypertelorism, narrow and upslanted palpebral fissures, epicanthic folds, low-set dysplastic ears, broad and depressed nasal bridge, cleft lip an/or palate, long philtrum, retro/micrognathia). Congenital heart defects, as well as cerebral, skeletal, renal and genital anomalies, have also been reported.","Curated_Disease_Description_Source__c":"MONDO:0019889","GARD_Synonym__c":"distal duplication 22q; distal trisomy 22q syndrome; distal trisomy type 22q; telomeric duplication 22q; trisomy 22qter","Name":"Distal trisomy 22q","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"},{"Account_Name__c":"22q Northern Ireland","Website__c":"https://www.22q11northernireland.co.uk/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:96109"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96109"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706936","Source__c":"C4706936","Xref__c":"C4706936"},{"URL__c":"https://www.orpha.net/en/disease/detail/96109","Source__c":"C4706936; MONDO:0019889; ORPHA:96109","Xref__c":"ORPHA:96109"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764512003","Source__c":"C4706936; MONDO:0019889","Xref__c":"764512003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1642344","Source__c":"C4706936","Xref__c":"MEDGEN:1642344"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019889","Source__c":"GARD:0019322","Xref__c":"MONDO:0019889"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Pediatrics"]},"synonyms":["distal duplication 22q"," distal trisomy 22q syndrome"," distal trisomy type 22q"," telomeric duplication 22q"," trisomy 22qter"]}